新疆维吾尔族耳聋患者mtDNA12SrRNA基因A1555G及A827G突变的研究

A Study of Mitochondrial 12SrRNA Gene A1555G and A827G Mutation in Uygur People with Deafness

徐红霞;盛国强;李彦华;

1:新疆维吾尔自治区中医医院耳鼻咽喉科

摘要
目的探讨新疆维吾尔族感音神经性聋患者中mtDNA12SrRNA基因突变的发生率。方法抽取120例新疆维吾尔族感音神经性聋患者(耳聋组)及100例维吾尔族健康对照者(对照组)外周血提取基因组DNA,进行mtDNA 12SrRNA基因PCR扩增,产物通过基因测序,进行突变检测和分析。结果所有研究对象的基因区域均扩增成功,mtDNA12SrRNA全序列检测发现耳聋组中共检出9例突变患者,其中mtDNA 12SrRNA A1555G突变5例,检出率为4.17%(5/120),961delT 1例,961insC 1例,A827G转换2例;对照组中发现A827G转换1例。结论本组新疆维吾尔族感音神经性聋患者线粒体DNA 12SrRNA A1555G突变检出率为4.17%,mtDNA 12SrRNA A827G转换是良性突变还是致病突变有待进一步研究。
关键词
线粒体DNA;基因突变;非综合征型感音神经性聋
基金项目(Foundation):
国家自然科学基金地区项目(30860358)
作者
徐红霞;盛国强;李彦华;
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